The Natural History of Esophageal "Absent Contractility" and Its Relationship with Rheumatologic Diseases: A Multi-Center Case-Control Study.

(1) Background: Absent contractility (AC) is an esophageal motility disorder defined as a normal integrated relaxation pressure with 100% failed peristalsis. We sought to clarify the natural history of this disorder and its relationship with rheumatologic diseases, such as systemic sclerosis (scleroderma). (2) Methods: We retrospectively identified patients with AC based on high-resolution manometry findings at three referral institutions and then matched them with controls with esophageal complaints who had normal manometries. (3) Results: Seventy-four patients with AC were included (mean age 56 years; 69% female). Sixteen patients (21.6%) had a rheumatologic disease. Compared to controls, patients with AC were significantly more likely to present with heartburn, dysphagia, vomiting, and weight loss. During follow-up, they were also more likely to be seen by a gastroenterologist, be diagnosed with gastroesophageal reflux disease, take a proton pump inhibitor, and undergo repeat upper endoscopies. No AC patients developed a new rheumatologic disease during follow-up. No significant differences were noted in the clinical presentation or course of AC patients with rheumatologic disease compared to those without. (4) Conclusions: Patients with AC have more esophageal symptoms and require more intense gastrointestinal follow-up than controls. Only a minority of patients with AC have underlying rheumatologic disease. Those without rheumatologic disease at baseline did not subsequently develop one, suggesting that a rheumatologic evaluation is likely unnecessary. The clinical course of AC in patients with rheumatologic disease and those without appears to be similar.